rs760101172 Rat Genome Database

rs760101172 Rat Genome Database

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Variant: rs760101172 - Homo sapiens

RGD ID:

152156627

RS ID:

rs760101172

ClinVar ID:

CV1666565

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NAE1

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	16	66,860,590
GRCh38	16	66,826,687

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001018160.2:c.-110-104G>C NM_001018159.2:c.129G>C NM_001286500.2:c.147G>C NM_003905.4:c.147G>C More...	01/27/2023	intron variant	pathogenic

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1666565	Human	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA		IAGP		8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia	ClinVar	PMID:36608681

Gene Symbol:	NAE1
Accession:	NM_001018160
Location:	5UTRS;INTRON

Gene Symbol:	NAE1
Accession:	XM_047434835
Location:	5UTRS;INTRON

Gene Symbol:	NAE1
Accession:	NM_003905
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	49

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQLGKLLKEQKYDRQLRLWGDHGQEALESAHVCLINATATGTEILKNFVLPGIGSFTIIDGNQVSGEDAGNNFFLQRSS IGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVG YMRIIIKEHPVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEK EDFRDLIRQGILKNENGAPEDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQ GNLPVRGTIPDMIADSGKYIKLQNVYREKAKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAE EYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQGRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVH EFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTSATFQL*

Gene Symbol:	NAE1
Accession:	NM_001018159
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDAQQTKTNEARLWGDHGQEALESAHVCLINATATGTEILKNFVLPGIGSFTIIDGNQVSGEDAGNNFFLQRSSIGKNRA EAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVGYMRIII KEHPVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEKEDFRDL IRQGILKNENGAPEDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQGNLPVR GTIPDMIADSGKYIKLQNVYREKAKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAEEYGLDT INKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQGRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYG AAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTSATFQL*

Gene Symbol:	NAE1
Accession:	NM_001286500
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	49

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQLGKLLKEQKYDRQLRLWGDHGQEALESAHVCLINATATGTEILKNFVLPGNVGIGSFTIIDGNQVSGEDAGNNFFLQ RSSIGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYG LVGYMRIIIKEHPVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTY KEKEDFRDLIRQGILKNENGAPEDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAK EGQGNLPVRGTIPDMIADSGKYIKLQNVYREKAKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRS LAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQGRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDD YVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTSATFQL*

ClinVar GRCh37	ClinVar GRCh38

PMID:36608681

Database	Acc Id	Source(s)
ClinVar	RCV003126203	CLINVAR
dbSNP (RS)	rs760101172	CLINVAR
MedGen	C5774298	CLINVAR
NCBI Gene	NAE1	CLINVAR
OMIM	603385	CLINVAR
	620210	CLINVAR
OMIM Allele	603385.0002	CLINVAR